ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3939C>G (p.Tyr1313Ter) (rs80358641)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000082922 SCV000300687 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000520208 SCV000618441 pathogenic not provided 2017-05-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3939C>G at the cDNA level and p.Tyr1313Ter (Y1313X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 4167C>G. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Ambry Genetics RCV000567978 SCV000665399 pathogenic Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000520208 SCV000887806 pathogenic not provided 2017-11-21 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082922 SCV000114996 pathogenic Breast-ovarian cancer, familial 2 2008-11-19 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000082922 SCV000146340 pathogenic Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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